ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.163G>T (p.Gly55Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV005230885 SCV005848197 uncertain significance Neurodegeneration with brain iron accumulation 4 2025-02-19 criteria provided, single submitter clinical testing Homozygous missense variant c.163G>T in exon 3 of C19orf12 that results in p.Gly55Trp. This variant is not reported in gnomAD and 1000G. Amino acid is conserved across species. Gene C19orf12 is causative for Neurodegeneration with brain iron accumulation 4 which shows AD/AR inheritance. PM1, PM2, PP2, and PP3.

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